title: Severe Tangier disease with a novel ABCA1 gene mutation.
authors.affiliation: Department of Neurology, University Medical Center Hamburg Eppendorf, Martinistr. 52, 20246 Hamburg, Germany. s.schippling@uke.uni-hamburg.de
authors.forename: S
authors.initials: S
authors.lastname: Schippling
authors.forename: M
authors.initials: M
authors.lastname: Orth
authors.forename: U
authors.initials: U
authors.lastname: Beisiegel
authors.forename: T
authors.initials: T
authors.lastname: Rosenkranz
authors.forename: P
authors.initials: P
authors.lastname: Vogel
authors.forename: A
authors.initials: A
authors.lastname: Münchau
authors.forename: C
authors.initials: C
authors.lastname: Hagel
authors.forename: U
authors.initials: U
authors.lastname: Seedorf
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002784:Cholesterol / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D013497:Sural Nerve / Q000378:metabolism / Q000473:pathology; D013631:Tangier Disease / Q000235:genetics* / Q000473:pathology
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D002784:Cholesterol